Die renale tubuläre Azidose mit Arthrogrypose ist eine autosomal rezessive Erkrankung bedingt mit proximalem Tubulusschaden und einer Fehlstellung der Gelenke.
Fehlstellung | |
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Für das ARC-Syndroms ist die Arthrogrypose pathognomonisch. |
Proximaler Tubulusschaden | |
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Die renale tubuläre Azidose im Rahmen des ARC-Syndroms ist durch das Fanconi-Syndrom bedingt und damit proximal. |
Proteinurie | |
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Die glomeruläre Proteinurie beim ARC-Syndrom deutet auf eine zusätzliche glomeruläre zu der pathognomonischen tubulären Schädigung. |
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